E-LIB Suche - Ergebnisse für: Vilain, Eric

1

Multi-Stakeholder Opinion Statement on the Care of Individu..:

Cools, Martine ; Cheng, Earl Y. ; Hall, Joanne...
Hormone Research in Paediatrics. , 2024

Link: https://doi.org/10.1159/..

2

P821: Long-read sequencing resolves CYP21A2 alleles in cong..:

Délot, Emmanuèle ; Monlong, Jean ; Chen, Xiao...
Genetics in Medicine Open. 2 (2024) - p. 101732 , 2024

Link: https://doi.org/10.1016/..

3

P204: Primary care electronic medical record features predi..:

Hernandez, Cristal Hernandez ; Duong, Nhat ; Cohen, Andrea...
Genetics in Medicine Open. 2 (2024) - p. 101101 , 2024

Link: https://doi.org/10.1016/..

4

A genome-wide spectrum of tandem repeat expansions in 338,9..:

Cui, Ya ; Ye, Wenbin ; Li, Jason Sheng...
Cell. 187 (2024) 9 - p. 2336-2341.e5 , 2024

Link: https://doi.org/10.1016/..

5

Reprograming skin fibroblasts into Sertoli cells: a patient..:

Parivesh, Abhinav ; Délot, Emmanuèle ; Reyes, Alejandra...
Biology of Sex Differences. 15 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

6

Optical genome mapping identifies a novel pediatric embryon..:

Bornhorst, Miriam ; Eze Jr, Augustine ; Bhattacharya, Surajit...
The Journal of Pathology. 260 (2023) 3 - p. 329-338 , 2023

Link: https://doi.org/10.1002/..

7

List of contributors:

, In: Genetic Steroid Disorders,

Achermann, John C. ; Auchus, Richard J. ; Baquedano, Maria Sonia... - p. xiii-xv , 2023

Link: https://doi.org/10.1016/..

8

Using a chat-based informed consent tool in large-scale gen..:

Savage, Sarah K ; LoTempio, Jonathan ; Smith, Erica D...
Journal of the American Medical Informatics Association. 31 (2023) 2 - p. 472-478 , 2023

Link: https://doi.org/10.1093/..

9

P227: De novo GATA4 deletion in a 46,XX boy with hypospadia..:

Leon, Eyby ; Gomez-Lobo, Veronica ; Shimy, Kim...
Genetics in Medicine Open. 1 (2023) 1 - p. 100255 , 2023

Link: https://doi.org/10.1016/..

10

Benchmarking long-read genome sequence alignment tools for ..:

LoTempio, Jonathan ; Delot, Emmanuele ; Vilain, Eric
PeerJ. 11 (2023) - p. e16515 , 2023

Link: https://doi.org/10.7717/..

11

P148: Novel molecular diagnoses in individuals with holopro..:

Cohen, Andrea ; Hughes, Joel ; Dalgard, Clifton...
Genetics in Medicine Open. 1 (2023) 1 - p. 100177 , 2023

Link: https://doi.org/10.1016/..

12

The genetics of ovotesticular differences of sex developmen:

, In: Genetic Steroid Disorders,

Vilain, Eric - p. 285-288 , 2023

Link: https://doi.org/10.1016/..

13

Genome-wide neonatal epigenetic changes associated with mat..:

Kocher, Kristen ; Bhattacharya, Surajit ; Niforatos-Andescavage, Nickie...
BMC Medical Genomics. 16 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

14

Increased diagnostic yield from negative whole genome‐slice..:

Berger, Seth I. ; Pitsava, Georgia ; Cohen, Andrea J....
Clinical Genetics. 104 (2023) 3 - p. 377-383 , 2023

Link: https://doi.org/10.1111/..

15

DNA methylation patterns associated with konzo in Sub-Sahar..:

Kocher, Kristen ; Bhattacharya, Surajit ; Bramble, Matthew S....
Clinical Epigenetics. 14 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..